|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
8
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
9
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
11
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
|
12
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
13
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|
|
14
|
(HPO:0005942)
|
Desquamative interstitial pneumonitis |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0006517)
|
Alveolar proteinosis |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
|
|
26 / 7739
|